Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3638655016 | Spectrin-associated autosomal recessive cerebellar ataxia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638656015 | Autosomal recessive spinocerebellar ataxia type 14 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638657012 | Autosomal recessive cerebellar ataxia, cognitive defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638658019 | Spectrin-associated autosomal recessive cerebellar ataxia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638659010 | Spectrin-associated autosomal recessive cerebellar ataxia type 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 765911000241114 | ataxie cérébelleuse autosomique récessive associée à la spectrine (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 907971000172114 | ataxie cérébelleuse autosomique récessive type 1 associée à la spectrine | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 908951000172115 | ataxie cérébelleuse autosomique récessive associée à la spectrine | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3638660017 | A rare genetic neurological disease due to SPTBN2 (spectrin beta, non-erythrocytic 2) mutations. The disease has characteristics of global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement). Caused by homozygous mutation in the SPTBN2 gene on chromosome 11q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spectrin-associated autosomal recessive cerebellar ataxia | est un(e) (attribut) | Congenital disease | true | Inferred relationship | Some | ||
| Spectrin-associated autosomal recessive cerebellar ataxia | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Spectrin-associated autosomal recessive cerebellar ataxia | est un(e) (attribut) | Early onset cerebellar ataxia | true | Inferred relationship | Some | ||
| Spectrin-associated autosomal recessive cerebellar ataxia | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Spectrin-associated autosomal recessive cerebellar ataxia | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Spectrin-associated autosomal recessive cerebellar ataxia | localisation d'une constatation (attribut) | structure cérébelleuse | true | Inferred relationship | Some | 1 | |
| Spectrin-associated autosomal recessive cerebellar ataxia | est un(e) (attribut) | Hereditary ataxia (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR